Analysis Tools
mortality/aging
|
• normal mendelian ratios at birth, with less than 5% surviving to adulthood
|
skeleton
|
• a severe reduction or absence of carpal bones is observed
|
|
• a severe reduction of the proximal and middle phalanges of the forelimb is observed
• only remnants of phalanges resembling sesamoid bones or fusions of sesamoid bones and phalanges are noted in the forefeet
|
absent talus
(
J:83132
)
bowed radius
(
J:83132
)
|
• at birth, the radius is bowed and appears to be dislocated from the elbow joint
• however, the radius straightens out by adulthood
|
short ulna
(
J:83132
)
|
• the ulna is reduced in size, exposing the pisiform underneath
• the ulna appears poorly ossified and shorter than the radius at late stages of embryogenesis and early postnatal stages but becomes fully ossified by adulthood
|
|
• metatarsal II is split into both a dorsal and a ventral element; both elements are fused to the tarsal bones
|
|
• in adulthood, 2 of 7 double homozygotes display severe scoliosis with curvatures between 39 and 67 degrees; not observed in newborns
|
|
• adult double homozygotes display a reduction of Alcian blue-stained cartilage matrix in the intervertebral articular processes between T13 and L2
|
|
• adult double homozygotes display a reduction of Alcian blue-stained cartilage matrix in the tip of spinous processes of vertebrae T12 to L3
|
fused joints
(
J:83132
)
|
• 86% of double homozygotes show fusion of carpal element 4/5 in the forelimb to the proximal end of metacarpal IV; this joint fusion is absent at E18.5 but becomes evident by P6
• 10 of 14 double homozygotes show joint fusions betweeen the metatarsal and proximal phalanx of digit V
• joint fusions between metacarpal and phalange rudiments of multiple digits and between the fibula and calcaneus are also observed
|
|
• the ulna appears poorly ossified and shorter than the radius at late stages of embryogenesis and early postnatal stages but becomes fully ossified by adulthood
|
limbs/digits/tail
|
• a severe reduction or absence of carpal bones is observed
|
|
• a severe reduction of the proximal and middle phalanges of the forelimb is observed
• only remnants of phalanges resembling sesamoid bones or fusions of sesamoid bones and phalanges are noted in the forefeet
|
absent talus
(
J:83132
)
bowed radius
(
J:83132
)
|
• at birth, the radius is bowed and appears to be dislocated from the elbow joint
• however, the radius straightens out by adulthood
|
short ulna
(
J:83132
)
|
• the ulna is reduced in size, exposing the pisiform underneath
• the ulna appears poorly ossified and shorter than the radius at late stages of embryogenesis and early postnatal stages but becomes fully ossified by adulthood
|
|
• metatarsal II is split into both a dorsal and a ventral element; both elements are fused to the tarsal bones
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| acromesomelic dysplasia, Grebe type | DOID:0080052 |
OMIM:200700 |
J:83132 | |
| idiopathic scoliosis | DOID:0060250 | J:83132 | ||
